Osteopetrosis: genetics, treatment and new insights into osteoclast function

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

(2013) Claus-Eric Ott et al.   BONE

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

(2012) Ofer Sarig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

(2012) Andreas Zankl et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chloride in Vesicular Trafficking and Function

(2012) Tobias Stauber et al.   Annual Review of Physiology

Osteopetrosis, osteopetrorickets and hypophosphatemic rickets differentially affect dentin and enamel mineralization

(2012) Till Koehne et al.   BONE

A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient

(2012) Alessandra Pangrazio et al.   CALCIFIED TISSUE INTERNATIONAL

Sclerosing Bone Disorders: Too Much of a Good Thing

(2012) Bram Perdu et al.   CRITICAL REVIEWS IN EUKARYOTIC GENE EXPRESSION

Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature

(2012) Zornitza Stark et al.   European Journal of Medical Genetics

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

(2012) André Mégarbané et al.   European Journal of Medical Genetics

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

(2012) P. M. Campeau et al.   HUMAN MOLECULAR GENETICS

V-ATPases in osteoclasts: Structure, function and potential inhibitors of bone resorption

(2012) A. Qin et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Class IA phosphatidylinositol 3-kinase regulates osteoclastic bone resorption through protein kinase B-mediated vesicle transport

(2012) Masahiro Shinohara et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteopetrosis rescue upon RANKL administration toRankl−/−mice: A new therapy for human RANKL-dependent ARO

(2012) Nadia Lo Iacono et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Disruption of the dynein-dynactin complex unveils motor-specific functions in osteoclast formation and bone resorption

(2012) Pei Ying Ng et al.   JOURNAL OF BONE AND MINERAL RESEARCH

SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

(2012) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteoclasts promote the formation of hematopoietic stem cell niches in the bone marrow

(2012) Anna Mansour et al.   JOURNAL OF EXPERIMENTAL MEDICINE

AnSNX10mutation causes malignant osteopetrosis of infancy

(2012) Memet Aker et al.   JOURNAL OF MEDICAL GENETICS

New developments in osteoimmunology

(2012) Hiroshi Takayanagi   Nature Reviews Rheumatology

Denosumab for Post-Transplantation Hypercalcemia in Osteopetrosis

(2012) Rukshana Shroff et al.   NEW ENGLAND JOURNAL OF MEDICINE

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

(2012) A. Pangrazio et al.   OSTEOPOROSIS INTERNATIONAL

Infantile osteopetrosis with superimposed rickets

(2012) Korcan Aysun Gonen et al.   PEDIATRIC RADIOLOGY

Successful cord blood transplantation in a patient with malignant infantile osteopetrosis and hemophilia

(2012) David Buchbinder et al.   PEDIATRIC TRANSPLANTATION

Defibrotide for the treatment of hepatic veno-occlusive disease in children after hematopoietic stem cell transplantation

(2012) Selim Corbacioglu et al.   Expert Review of Hematology

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The osteoclast and its unique cytoskeleton

(2011) Steven L. Teitelbaum   Annals of the New York Academy of Sciences

A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo

(2011) Yanqun Chen et al.   CELL RESEARCH

ClC-7 is a slowly voltage-gated 2Cl−/1H+-exchanger and requires Ostm1 for transport activity

(2011) Lilia Leisle et al.   EMBO JOURNAL

Osteoclast Activity and Subtypes as a Function of Physiology and Pathology—Implications for Future Treatments of Osteoporosis

(2011) K. Henriksen et al.   ENDOCRINE REVIEWS

Requirement of alveolar bone formation for eruption of rat molars

(2011) Gary E. Wise et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF

(2011) Eleni Douni et al.   HUMAN MOLECULAR GENETICS

The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice

(2011) Noelle Ochotny et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese

(2011) Tetsutaro Yamaguchi et al.   JOURNAL OF BONE AND MINERAL RESEARCH

RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

(2011) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia

(2011) Yang Xue et al.   JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

The skeleton: a multi-functional complex organ. The role of key signalling pathways in osteoclast differentiation and in bone resorption

(2011) David J Mellis et al.   JOURNAL OF ENDOCRINOLOGY

Osteoclasts are dispensable for hematopoietic stem cell maintenance and mobilization

(2011) Kana Miyamoto et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Osteopetrosis with Chiari I malformation: presentation and surgical management

(2011) Brian J. Dlouhy et al.   Journal of Neurosurgery-Pediatrics

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

(2011) Michael A Simpson et al.   NATURE GENETICS

Ex vivo gene transfer and correction for cell-based therapies

(2011) Luigi Naldini   NATURE REVIEWS GENETICS

LIS1 Regulates Osteoclast Formation and Function through Its Interactions with Dynein/Dynactin and Plekhm1

(2011) Shiqiao Ye et al.   PLoS One

Dissociation of Bone Resorption and Bone Formation in Adult Mice with a Non-Functional V-ATPase in Osteoclasts Leads to Increased Bone Strength

(2011) Kim Henriksen et al.   PLoS One

Sclerosing Bone Dysplasias: Review and Differentiation from Other Causes of Osteosclerosis

(2011) Lauren L. Ihde et al.   RADIOGRAPHICS

Bisphosphonate osteonecrosis of the jaw: A historical and contemporary review

(2011) Niall M.H. McLeod et al.   SURGEON-JOURNAL OF THE ROYAL COLLEGES OF SURGEONS OF EDINBURGH AND IRELAND

Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia

(2011) Evgeny A. Glazov et al.   PLoS Genetics

Heritable sclerosing bone disorders

(2010) Marie-Christine De Vernejoul et al.   Annals of the New York Academy of Sciences

Successful haematopoietic stem cell transplantation for osteopetrosis due to TCRIG1 mutation

(2010) M. Abinun et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Inhibition of osteoclast function reduces hematopoietic stem cell numbers in vivo

(2010) S. Lymperi et al.   BLOOD

Directed differentiation of hematopoietic precursors and functional osteoclasts from human ES and iPS cells

(2010) A. E. Grigoriadis et al.   BLOOD

Structural and Functional Insights of RANKL-RANK Interaction and Signaling

(2010) C. Liu et al.   JOURNAL OF IMMUNOLOGY

Rubicon and PLEKHM1 Negatively Regulate the Endocytic/Autophagic Pathway via a Novel Rab7-binding Domain

(2010) Keisuke Tabata et al.   MOLECULAR BIOLOGY OF THE CELL

Bone quality is partially recovered after the discontinuation of RANKL administration in rats by increased bone mass on existing trabeculae: an in vivo micro-CT study

(2010) Graeme M. Campbell et al.   OSTEOPOROSIS INTERNATIONAL

New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis

(2010) J. C. Crockett et al.   OSTEOPOROSIS INTERNATIONAL

Structure-based development of a receptor activator of nuclear factor- B ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosis

(2010) H. M. Ta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rubicon controls endosome maturation as a Rab7 effector

(2010) Q. Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lysosomal Pathology and Osteopetrosis upon Loss of H+-Driven Lysosomal Cl- Accumulation

(2010) S. Weinert et al.   SCIENCE

Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis

(2010) G. Novarino et al.   SCIENCE

A single-center experience in 20 patients with infantile malignant osteopetrosis

(2009) Evelina Mazzolari et al.   AMERICAN JOURNAL OF HEMATOLOGY

Osteopetrosis-More than only a disease of the bone

(2009) Anders Fasth   AMERICAN JOURNAL OF HEMATOLOGY

Fetal Liver Cells Transplanted in Utero Rescue the Osteopetrotic Phenotype in the oc/oc Mouse

(2009) Barbara Tondelli et al.   AMERICAN JOURNAL OF PATHOLOGY

Maxillofacial Aspects in Malignant Osteopetrosis

(2009) Paulo Sérgio da Silva Santos et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

(2009) Elena A Bliznetz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7

(2009) Lena Wartosch et al.   FASEB JOURNAL

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

(2009) Simon T. Cliffe et al.   HUMAN MOLECULAR GENETICS

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

(2009) Alessandra Pangrazio et al.   HUMAN MUTATION

Evaluation of Pharmaceuticals With a Novel 50-Hour Animal Model of Bone Loss*

(2009) Yoshiya Tomimori et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mechanisms of Tooth Eruption and Orthodontic Tooth Movement

(2009) G.E. Wise et al.   JOURNAL OF DENTAL RESEARCH

A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans

(2009) Nikolay L Malinin et al.   NATURE MEDICINE

Impaired gastric acidification negatively affects calcium homeostasis and bone mass

(2009) Thorsten Schinke et al.   NATURE MEDICINE

Dynein motor contributes to stress granule dynamics in primary neurons

(2009) N.-P. Tsai et al.   NEUROSCIENCE

Osteopetrosis

(2009) Zornitza Stark et al.   Orphanet Journal of Rare Diseases

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

(2008) Vered Molho-Pessach et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

(2008) Matteo M. Guerrini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kindlin-3: a new gene involved in the pathogenesis of LAD-III

(2008) A. Mory et al.   BLOOD

Towards a better understanding and new therapeutics of osteopetrosis

(2008) Maria K. Askmyr et al.   BRITISH JOURNAL OF HAEMATOLOGY

Soluble RANKL Induces High Bone Turnover and Decreases Bone Volume, Density, and Strength in Mice

(2008) S. A. J. Lloyd et al.   CALCIFIED TISSUE INTERNATIONAL

Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor

(2008) Anna Villa et al.   CALCIFIED TISSUE INTERNATIONAL

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

(2008) Thomas J. Jentsch   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in theTCIRG1Gene in Five Osteopetrotic Patients

(2008) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes

(2008) Austin R. Graves et al.   NATURE

Vesicular trafficking in osteoclasts

(2008) Fraser P. Coxon et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Genetics, pathogenesis and complications of osteopetrosis

(2007) Andrea Del Fattore et al.   BONE